Canonical Allele Identifier: CA2175520419

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472486G= , CM000677.2:g.48472486G=	GRCh38
NC_000015.9:g.48764683G= , CM000677.1:g.48764683G=	GRCh37
NC_000015.8:g.46551975G=	NCBI36
NG_008805.2:g.178303C= , LRG_778:g.178303C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+65C=	ENSP00000453958.2:n.4336+65C=
ENST00000674301.2:c.4336+65C=	ENSP00000501333.2:n.4336+65C=
ENST00000683268.1:n.303+65C=
ENST00000684448.1:n.3010+65C=
ENST00000316623.10:c.4336+65C= MANE Select	ENSP00000325527.5:n.4336+65C=
ENST00000316623.9:c.4336+65C=	ENSP00000325527.5:n.4336+65C=
ENST00000537463.6:c.*99+65C=	ENSP00000440294.2:n.*99+65C=
NM_000138.4:c.4336+65C= , LRG_778t1:c.4336+65C=	NP_000129.3:n.4336+65C=
NM_000138.5:c.4336+65C= MANE Select	NP_000129.3:n.4336+65C=